ClinVar Miner

Submissions for variant NM_001354604.2(MITF):c.366C>T (p.His122=) (rs140663277)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000217396 SCV000269242 benign not specified 2014-11-24 criteria provided, single submitter clinical testing His122His in exon 3 of MITF: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.3% (30/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs140663277).
PreventionGenetics,PreventionGenetics RCV000217396 SCV000303137 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332499 SCV000445918 benign Tietz syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000382353 SCV000445919 benign Waardenburg syndrome type 2A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586833 SCV000696087 benign not provided 2016-03-03 criteria provided, single submitter clinical testing
GeneDx RCV000586833 SCV000730723 benign not provided 2019-02-12 criteria provided, single submitter clinical testing
Invitae RCV001086789 SCV001001254 benign Tietz syndrome; Waardenburg syndrome type 2A; Cutaneous malignant melanoma 8 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000586833 SCV001144510 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000217396 SCV001917667 benign not specified no assertion criteria provided clinical testing

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